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fullhouse3b2g
12-21-2009, 12:47 PM
We saw a team of geneticists in Sept. 2008. They did a lot of bloodwork from each family member. They said they were certain that our family carries a "Heritable Disorder of The Connective Tissue" (a genetic connective tissue syndrome). They told us that sometimes it can take a loooonnngggg time to find answers in the bloodwork because of how many tests and things that they have to run on each part. They told us that we may hear something in a few months or it could be several years or more.

We've been waiting and hoping for answers for our family. Last December, they told us that they had found some extra material on one of the chromosones, but that they didn't know the significance of it yet.

We talked to them a few weeks ago and they said that they have found a lot of issues with Sam's (dh's) genes and chromosones. They are still unclear of what it all means if anything. When we asked them to explain they said that his blood is very "busy" ( I still don't have a clue what that means). They said theres lots of extra material here and there and missing things here and there. They want another blood sample from him to see if it'll help "clear" things up for them.

Also, they said that there is a newer and better genetic test that they want to run Isaac's blood work with. It's called a SNP Array. (The old one was called a BAC Array). We're excited and hoping that these new tests will give us some long awaited answers.

Here's the problem though. We only have until December 29th to get the bloodwork in or it won't be covered by insurance (without insurance it is extremely expensive). They have sent us a blood collection kit and asked that we find someone who is qualified here to do the blood draw for us. This will save us a 7-8 hour trip to Baltimore just for a blood draw.

My SIL is a nursing instructor at a college here and is qualified to do the blood draw. She is going to be coming over tonight to try. She doesn't have a problem doing Sam's blood, but said that it's been several years since she's done a draw on a child. Isaac is notorious for being hard to get. His veins just don't like to be generous! They only sent 2 needles to try with and there's no way we'd get more in time to make it with our insurance deadline. PLEASE pray that we would be able to get a good draw on the first try with both dh and Isaac!!

Also, pray that the doctors are able to find the answers we need in this set of bloodwork! Thanks so much!!!

Monica
12-21-2009, 02:19 PM
Praying our butts off. Is there nowhere to get extra needles just in case?!

Kate Carey-Trull
12-21-2009, 02:23 PM
Best of luck!! Could your pediatrician recc. a lab to do the blood draw for Issac if needed? Our ped now has someone down the hall who does them, so we are lucky.
Good luck and hopefully you'll get some answers.

Shar
12-21-2009, 06:40 PM
PRAYING!!! :pray

melsch
12-21-2009, 06:41 PM
Thinking of you tonight and sending over lots of prayers for both answers and a good/easy draw!

beccad
12-21-2009, 09:49 PM
Wow girl I will be praying for steady hands and the perfect vein to pop right out for an easy blood draw.

fullhouse3b2g
12-22-2009, 12:21 AM
Thanks for all the prayers. We decided to wait and try to figure out if our new insurance will cover it. The chance of the blood work getting to the office and them billing it after our old insurance is void was too great of a chance for us to take. The test could leave us paying over a thousand dollars each and we just can't take that right now.

The thing about getting our doctor's office to do it, was actually what we had planned when we first talked to the geneticist about a month ago. Then one thing after another happened and we didn't recieve the blood collection kit (it's a specialized kit that most labs don't carry) until after Sam got a job and we went out of the area to stay at my parent's house. We don't have doctors here yet.

Hopefully things will work out with our new insurance and we'll still be able to get the tests done.